8th International RASopathies Symposium: Expanding Research and Care Practice through Global Collaboration and Advocacy

项目摘要 RAS-RAF-MEK-ERK信号通路失调是导致一大群人类先天性巨噬细胞的原因。 这些综合征统称为RAS病，其共同的致病机制是RAS/ERK升高 信号和重叠的临床特征。RAS病综合征沿着一个具有可变， 多系统并发症反映了RAS信号转导在整个过程中的重要和广泛作用 发展家庭的医疗、经济和社会负担可能是巨大的。一些 RASopathies（例如，Costello，心面皮肤，Legius综合征）相对罕见，而努南 综合征和1型神经纤维瘤病的发病率估计为1：1000-1：2500。研究稀有 需要纳入广泛的专门知识和伙伴网络，以达到生产性发展的临界质量。 见解.为了促进对所有RASopathies的理解，我们寻求资金召开第八届国际 RASopathies研讨会：通过全球合作扩大研究和护理实践， 宣传，一个混合，虚拟/在丹佛，科罗拉多人事件7月21日至23日，2023年。这种格式是预期的。 吸引临床医生、研究人员、受训人员、生物制药公司、倡导者的最大参与， 从国际社会的影响RAS病家庭。这次研讨会与众不同 通过高度多学科，以科学为重点，包容倡导者和家庭， 靶向肿瘤学或RAS相关药物发现会议。家长维权组织委员会， 学术和临床椅子，由三名妇女和两名有色人种组成。一群不同的主持人， 小组成员和主持人，包括早期研究人员，将开会讨论（i）生活质量问题， (ii)最近的临床进展，（iii）从大脑到行为的神经发育，（iv）代谢紊乱，（v） 喂养和胃肠道的挑战，（六）目前的治疗前景和药物发现的进展，（七） 基因型-表型相关性，以及（viii）全球合作和宣传。会议广告 将特别欢迎代表性不足的团体和新的调查人员，以增加人才库， 建立国际研究人员网络，使更广泛的科学和RASopathies受益 社区.要求提供资金，以支持组织者和演讲者的旅行/住宿， 学员/早期研究者，其有价值的摘要被选择用于演示，以及 实施混合会议后勤。

PROJECT SUMMARY RAS-RAF-MEK-ERK signaling pathway dysregulation is responsible for a large group of human congenital syndromes collectively termed RASopathies that share a pathogenic mechanism of elevated RAS/ERK signaling and overlapping clinical features. RASopathy syndromes fall along a spectrum with variable, multisystem complications reflecting the essential and widespread role of RAS signaling throughout development. The medical, financial, and social burden on families can be substantial. Some of the RASopathies (e.g., Costello, cardiofaciocutaneous, Legius syndromes) are relatively rare, whereas Noonan syndrome and Neurofibromatosis type 1 are estimated to affect 1:1000-1:2500 people. The study of rare diseases necessitates inclusion of broad expertise and partner networks to reach critical mass for productive insights. To advance understanding of all RASopathies, we seek funding to convene the 8th International RASopathies Symposium: Expanding Research and Care Practice through Global Collaboration and Advocacy, a hybrid, virtual/in-person event in Denver, Colorado on July 21-23, 2023. This format is expected to attract the greatest participation of clinicians, researchers, trainees, biopharma companies, advocates, and affected RASopathy families from the international community. The symposium is distinguished from others by being highly multidisciplinary, science-focused and inclusive of advocates and families, and distinct from targeted oncology or RAS-associated drug discovery meetings. The organizing committee of parent advocates, academic and clinical chairs, consists of three women and two people of color. A diverse group of presenters, panelists, and moderators, including early-stage investigators, will convene to discuss (i) quality of life issues, (ii) recent clinical progress, (iii) neurodevelopment from brain to behavior, (iv) disordered metabolism, (v) feeding and gastrointestinal challenges, (vi) current therapeutic landscape and advances in drug discovery, (vii) genotype-phenotype correlations, and (viii) global collaborations and advocacy. Conference advertisements will specifically welcome underrepresented groups and new investigators to increase the talent pool from which to build an international network of researchers, benefitting the broader scientific and RASopathies communities. Funds are requested to support travel/lodging for organizers and speakers, scholarships for trainees/early-stage investigators whose meritorious abstracts are selected for presentation, and implementation of the hybrid conference logistics.